Case Reports
doi: 10.1097/00019605-200207000-00010.
Atypical macrocephaly-cutis marmorata telangiectatica congenita with retinoblastoma
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- PMID: 12072801
- DOI: 10.1097/00019605-200207000-00010
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Case Reports
Atypical macrocephaly-cutis marmorata telangiectatica congenita with retinoblastoma
Clin Dysmorphol.
2002 Jul.
Abstract
We describe a boy presenting with macrosomy, body asymmetry, cutis marmorata and tall stature who developed a retinoblastoma. Although he does not have macrocephaly, his clinical picture is compatible with the diagnosis of Macrocephaly-cutis marmorata telangiectatica congenita syndrome (M-CMTC). Interestingly, retinoblastoma is not generally associated with overgrowth syndromes, and its occurrence in this patient suggests that M-CMTC is also a tumour-prone syndrome.
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